ClinVar Miner

List of variants in gene ARSA reported as uncertain significance for Inborn genetic diseases

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.605G>A (p.Arg202His) rs201794808 0.00019
NM_000487.6(ARSA):c.680C>G (p.Ser227Cys) rs138468395 0.00019
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) rs540762357 0.00007
NM_000487.6(ARSA):c.825G>T (p.Glu275Asp) rs907795869 0.00006
NM_000487.6(ARSA):c.325G>A (p.Val109Met) rs746259972 0.00004
NM_000487.6(ARSA):c.492C>G (p.Phe164Leu) rs745605987 0.00004
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys) rs398123419 0.00002
NM_000487.6(ARSA):c.901C>T (p.Arg301Trp) rs794727704 0.00001
NM_000487.6(ARSA):c.1118A>C (p.Gln373Pro)
NM_000487.6(ARSA):c.1177A>G (p.Thr393Ala)
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly) rs2146717703
NM_000487.6(ARSA):c.1181G>A (p.Gly394Glu)
NM_000487.6(ARSA):c.1205C>G (p.Thr402Ser)
NM_000487.6(ARSA):c.1442G>C (p.Arg481Pro)
NM_000487.6(ARSA):c.1483T>G (p.Cys495Gly)
NM_000487.6(ARSA):c.454T>C (p.Ser152Pro)
NM_000487.6(ARSA):c.509G>A (p.Cys170Tyr)
NM_000487.6(ARSA):c.565G>A (p.Val189Met)
NM_000487.6(ARSA):c.572C>T (p.Ala191Val)
NM_000487.6(ARSA):c.646C>T (p.Arg216Cys)
NM_000487.6(ARSA):c.788T>C (p.Leu263Pro) rs2082674283
NM_000487.6(ARSA):c.820G>A (p.Glu274Lys)
NM_000487.6(ARSA):c.968A>C (p.His323Pro)

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